Canonical Allele Identifier: CA386780154

Gene: PTPN11

Linked Data

• dbSNP Id: rs2135916758
• MyVariant Identifiers: chr12:g.112926968G>A (hg19) ; chr12:g.112489164G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.112489164G>A , CM000674.2:g.112489164G>A	GRCh38
NC_000012.11:g.112926968G>A , CM000674.1:g.112926968G>A	GRCh37
NC_000012.10:g.111411351G>A	NCBI36
NG_007459.1:g.75433G>A , LRG_614:g.75433G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000639857.2:c.1588G>A	ENSP00000491593.2:p.Glu530Lys
ENST00000685487.1:c.1588G>A	ENSP00000508503.1:p.Glu530Lys
ENST00000687624.1:n.253G>A
ENST00000687906.1:c.1474G>A	ENSP00000509536.1:p.Glu492Lys
ENST00000688597.1:c.1224+6959G>A	ENSP00000510628.1:n.1224+6959G>A
ENST00000688701.1:n.832G>A
ENST00000690210.1:c.1588G>A	ENSP00000509272.1:p.Glu530Lys
ENST00000690472.1:n.797G>A
ENST00000692624.1:c.*134G>A	ENSP00000508953.1:n.*134G>A
ENST00000351677.7:c.1588G>A MANE Select	ENSP00000340944.3:p.Glu530Lys
ENST00000351677.6:c.1588G>A	ENSP00000340944.2:p.Glu530Lys
ENST00000635625.1:c.1600G>A	ENSP00000489597.1:p.Glu534Lys
NM_002834.3:c.1588G>A , LRG_614t1:c.1588G>A	NP_002825.3:p.Glu530Lys
XM_006719526.1:c.1600G>A	XP_006719589.1:p.Glu534Lys
XM_006719527.1:c.1486G>A	XP_006719590.1:p.Glu496Lys
XM_011538613.1:c.1597G>A	XP_011536915.1:p.Glu533Lys
NM_001330437.1:c.1600G>A	NP_001317366.1:p.Glu534Lys
NM_002834.4:c.1588G>A	NP_002825.3:p.Glu530Lys
XM_011538613.2:c.1597G>A	XP_011536915.1:p.Glu533Lys
XM_017019722.1:c.1585G>A	XP_016875211.1:p.Glu529Lys
NM_001330437.2:c.1600G>A	NP_001317366.1:p.Glu534Lys
NM_001374625.1:c.1585G>A	NP_001361554.1:p.Glu529Lys
NM_002834.5:c.1588G>A MANE Select	NP_002825.3:p.Glu530Lys